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Recognized gene
ABCB4
Normalized c.HGVS
c.1055C>T, c.1063G>A, c.1217G>A, c.1313C>T, c.1481G>A and 35 more
Normalized p.HGVS
p.(=), p.(Ala254Thr), p.(Ala286Val), p.(Ala304Asp), p.(Ala546Asp) and 35 more
Matching records
78
PM3-positive records
15
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| ABCB4 |
NM_000443.4:c.3230C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
41274965
ABCB4 disease-causing variants S242R, S346I, T437I and T1077M significantly impair its function and display differential sensitivity to potentiators.
Scientific reports, 2025
|
Main article | |
| ABCB4 |
NM_000443.4:c.1650C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2317-5A≥G; Splicing mutation
context: Compound heterozygous candidate
|
40110281
Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.
Annals of medicine and surgery (2012), 2024
|
Main article | |
| ABCB4 |
NM_000443.4:c.2137G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.504C>T; p.N168N
context: Compound heterozygous candidate
|
40110281
Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.
Annals of medicine and surgery (2012), 2024
|
Main article | |
| ABCB4 |
NM_000443.4:c.3230C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40110281
Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.
Annals of medicine and surgery (2012), 2024
|
Main article | |
| ABCB4 |
NM_000443.4:c.431G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3233T>A; Val1078Glu
context: Compound heterozygous candidate
|
40110281
Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.
Annals of medicine and surgery (2012), 2024
|
Main article | |
| ABCB4 |
NM_000443.4:c.602C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3352G>A; E1118K
context: Compound heterozygous candidate
|
40110281
Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.
Annals of medicine and surgery (2012), 2024
|
Main article | |
| ABCB4 |
NM_000443.4:c.1650C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2317-5A>G; Splicing
context: Compound heterozygous candidate
|
38610052
Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.
Orphanet journal of rare diseases, 2024
|
Supplementary material | |
| ABCB4 |
NM_000443.4:c.3230C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: PM3 evidence context not structured
|
36550572
Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures.
Orphanet journal of rare diseases, 2022
|
Main article | |
| ABCB4 |
NM_000443.4:c.760G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1546A>G; c.2363G>A; p.M516V; +1 more
context: Compound heterozygous candidate
|
35884482
Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.
Cancers, 2022
|
Main article | |
| ABCB4 |
NM_000443.4:c.1217G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
35741809
Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.
Genes, 2022
|
Main article | |
| ABCB4 |
NM_000443.4:c.2581T>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1584G>C; p.Glu528Asp
context: Compound heterozygous candidate
|
35626323
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Diagnostics (Basel, Switzerland), 2022
|
Main article | |
| ABCB4 |
NM_000443.4:c.760G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.G773V
context: Compound heterozygous candidate
|
34016879
Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis.
Journal of pediatric gastroenterology and nutrition, 2021
|
Main article | |
| ABCB4 |
NM_000443.4:c.857C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with L842P; V1051A
context: Compound heterozygous candidate
|
33842647
A novel compound heterozygous mutation in ABCB4 gene in a pedigree with progressive familial intrahepatic cholestasis 3: a case report.
Annals of translational medicine, 2021
|
Main article | |
| ABCB4 |
NM_000443.4:c.431G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
29973134
Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis.
BMC gastroenterology, 2018
|
Main article | |
| ABCB4 |
NM_000443.4:c.2165G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2860G>A; c.3486+5G>A; p.Gly954Ser; +1 more
context: Compound heterozygous candidate
|
29761167
Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.
Hepatology communications, 2018
|
Main article | |
| ABCB4 |
NM_000443.4:c.3230C>T
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
34016879
Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis.
Journal of pediatric gastroenterology and nutrition, 2021
|
Main article | |
| ABCB4 |
NM_000443.4:c.2144C>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
27256251
Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.
Scientific reports, 2016
|
Main article and supplement | |
| ABCB4 |
NM_000443.4:c.857C>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
27256251
Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3.
Scientific reports, 2016
|
Main article and supplement | |
| ABCB4 |
NM_000443.4:c.1055C>T
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
26153658
Heterozygous ABCB4 mutations in children with cholestatic liver disease.
Liver international : official journal of the International Association for the Study of the Liver, 2016
|
Main article | |
| ABCB4 |
NM_000443.4:c.217C>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
39945383
Diagnostic Uptake of Targeted Sequencing in Adults With Steatotic Liver Disease and a Suspected Genetic Contribution.
Liver international : official journal of the International Association for the Study of the Liver, 2025
|
Main article and supplement | |